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Genetik in der Andrologie

  • Chapter
Weibliche Sterilität

Zusammenfassung

Es wird zunehmend deutlich, daß die männliche Subfertilität, die lange Zeit keiner Behandlung zugängig war und pathogenetisch aufgrund fehlender Kausalität in der Regel als idiopathisch bezeichnet wurde, genetische Ursachen haben kann. So existieren nicht nur das klassische Krankheitsbild des Klinefelter-Syndroms, sondern viel subtilere Defekte, die sich teilweise nur in einer gestörten Spermatogenese bzw. einer männlichen Subfertilität äußern. Dazu gehören Mukoviszidosemutationen ebenso wie balancierte Translokationen und Deletionen des Azoospermiefaktors auf dem langen Arm des Y-Chromosoms. Auch hier hat aber die Diagnostik das Wissen um die formale Pathogenese schon weit überholt. Trotz unseres Wissens um die Ursachen ist es bisher nicht oder nur ansatzweise möglich zu erklären, wie diese Veränderungen in eine männliche Subfertilität münden können.

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Literatur

  • Afzelius BA (1981) Genetical and ultrastructural aspects of the immotile-cilia syndrome. Am J Hum Genet 33: 852–864

    PubMed  CAS  Google Scholar 

  • Afzelius BA (1987) zit. nach: McKusick VA (1994) Mendelian inheritance in man, 11th edn, vol 2, p 1932

    Google Scholar 

  • Aitken RJ, Ross A, Less MM (1983) Analysis of sperm function in Kartagener’s syndrome. Fertil Steril 40: 696–698

    PubMed  CAS  Google Scholar 

  • Allanson JE (1987) Noonan syndrome. J Med Genet 24: 9–13

    CAS  Google Scholar 

  • Anguiano A, Oates RH, Amos JA et al. (1992) Congenital bilateral absence of the vas deferens: a primarily genital form of cystic fibrosis. J Am Med Assoc 67: 1794–1797

    Article  Google Scholar 

  • Anton-Lambrecht, Kotzur B, Schopf E (1976) Round headed human spermatozoe. Fertil Steril 27: 685–693

    Google Scholar 

  • Barreto C, Pinto LM, Duarte A, Lavinha J, Ramsay M (1991) A fertile male with cystic fibrosis: molecular genetic analysis. J Med Genet 28: 420–421

    Article  PubMed  CAS  Google Scholar 

  • Belokopytova IA, Kostyleva EI, Tomilin AN, Vorob’ev VI (1993) Human male infertility may be due to a decrease of the protamine P2 content in sperm chromatin. Mol Reprod Dev 34: 53–57

    Article  PubMed  CAS  Google Scholar 

  • Berta P, Hawkins JR, Sinclair AH, Taylor A, Griffiths BL, Goodfellow PN, Fellous M (1990) Genetic evidence equating SRY and the testis-determining factor. Nature 348: 448–450

    Article  PubMed  CAS  Google Scholar 

  • Bick D, Franco B, Sherins RJ et al. (1992) Brief report: intragenic deletion of the KALIG-1 gene in Kallmann’s syndrome. New Engl J Med 326: 1752–1755

    Article  PubMed  CAS  Google Scholar 

  • Bolton MR, Pugh DM, Mattioli LF, Dunn MI, Schimke RN (1974) The Noonan syndrome: a family study. Ann Intern Med 80: 626–629

    PubMed  CAS  Google Scholar 

  • Bourgoyne P (1982) Genetic homology and crossing over in the X and Y chromosomes of mammals. Hum Genet 61: 85–90

    Article  Google Scholar 

  • Bourne H, Liu DY, Clarke GN, Baker GHW (1995) Normal fertilization and embryo development by intracytoplasmic sperm injection of round-headed acrosomeless sperm. Fertil Steril 63: 1329–1332

    PubMed  CAS  Google Scholar 

  • Celermajer JM, Bowdler JD, Cohen DH (1968) Pulmonary stenosis in patients with the Turner phenotype in the male. Am J Dis Child 116: 351–358

    PubMed  CAS  Google Scholar 

  • Chandley AC (1975) Human meiotic studies. In: Emery AEH (ed) Modern trends in human genetics. Butterworths, London, pp 31–82

    Google Scholar 

  • Chemes HE, Brugo S, Zanchetti F, Carrere C, Lavieri JC (1987a) Dysplasia of the fibrous sheath: an ultrastructural defect of human spermatozoa associated with sperm immotility and primary sterility. Fertil Steril 48:664–669

    CAS  Google Scholar 

  • Chemes HE, Carizza C, Scarinci F, Brugo S, Neuspiller N, Schwarsztein L (1987b) Lack of a head in human spermatozoa from sterile patients: a syndrome associated with impaired fertilization. Fertil Steril 47: 310–316

    CAS  Google Scholar 

  • Chillon M, Casals T, Mergier B et al. (1995) Mutations in the cystic fibrosis gene in patients with congenital absence of the vas deferens. N Engl J Med 332: 1475–1480

    Article  PubMed  CAS  Google Scholar 

  • Chu CS, Trapnell BC, Curristin S, Cutting GR, Crystal RG (1993) Genet basis of variable exon 9 skipping in cystic fibrosis transmembrane conductance regulator mRNA. Nat Genet 3: 151–156

    Article  PubMed  CAS  Google Scholar 

  • Cooke HJ, Lee M, Kerr S, Ruggiu M (1996) A murine homologue of the human DAZ gene is autosomal and expressed only in male and female gonads. Hum Mol Genet 5: 513–516

    Article  PubMed  CAS  Google Scholar 

  • Culard JF, Desgeorges M, Costa P, et al. (1994) Analysis of the whole CFTR coding regions and splice junctions in azoospermic men with congeital bilateral aplasia of epididymis or vas deferens. Hum Genet 93: 467–470

    Article  PubMed  CAS  Google Scholar 

  • Culig Z, Hobisch A, Cronauer MV et al. (1993) Mutant androgen receptor detected in an advanced-stage prostatic carcinoma is activated by adrenal androgens and progesterone. Mol Endocrinol 7: 1541–1550

    Article  PubMed  CAS  Google Scholar 

  • Dale B, Iaccarino M, Fortunato A, Gragnaniello G, Kyozuka K, Tosti E (1994) A morphological and functional study of fusibility in round-headed spermatozoa in the human. Fertil Steril 61: 336–340

    PubMed  CAS  Google Scholar 

  • De Braekeleer M, Dao TN (1991) Cytogenetic studies in male infertility: a review. Hum Re-prod 6: 245–250

    Google Scholar 

  • Dumur V, Gervais R, Rigot JM et al. (1990) Abnormal distribution of CF DF 508 allele in azoospermic men with congenital aplasia of epididymis and vas deferens. Lancet 336: 512

    Article  PubMed  CAS  Google Scholar 

  • Eberhart CG, Maines JZ, Wasserman SA (1996) Meiotic cell cycle requirement for a fly homologue of human deleted in azoospermia. Nature 381: 783–785

    Article  PubMed  CAS  Google Scholar 

  • Elsawi MM, Pryor JP, Klufio G, Barnes C, Patton MA (1994) Genital tract function in men with Noonan syndrome. Med Genet 31: 468–470

    Article  CAS  Google Scholar 

  • Engel W, Schmid M (1995) Gibt es genetische Risiken der mikroassistierten Reproduktion. Fertilität 11: 214–228

    Google Scholar 

  • Erickson RP (1993) Molecular genetics of mammalian spermatogenesis. In: Gwatkin RBL (ed) Genes in mammalian reproduction. Wiley-Liss, New York, pp 1–26

    Google Scholar 

  • Ferguson-Smith MA, Lennox B, Mack WS, Stewart JSS (1957) Klinefelter’s syndrome: frequency and testicular morphology in relation to nuclear sex. Lancet 11: 167

    Article  Google Scholar 

  • Foss GL, Lewis FJ (1971) A study of four cases with Klinefelter’s syndrome, showing motile spermatozoa in their ejaculates. J Reprod Fertil 25: 401–408

    Article  PubMed  CAS  Google Scholar 

  • Franco B, Guioli S, Pragiola A, et al. (1991) A gene deleted in Kallmann’s syndrome shares homology with neural cell adhesion and axonal path-finding molecules. Nature 353: 529–536

    Article  PubMed  CAS  Google Scholar 

  • Futterweis W (1967) Spermatozoa in seminal fluid of a patient with Klinefelter’s syndrome. Fertil Steril 18: 492–496

    Google Scholar 

  • Goodfellow PJ, Darling SM, Thomas NS, Goodfellow PN (1986) A pseudoautosomal gene in man. Science 234: 740–742

    Article  PubMed  CAS  Google Scholar 

  • Gordon DL, Krmpotic E, Thomas W et al. (1972) Pathologic testicular findings in Klinefelter’s syndrome. Arch Intern Med 139: 726–729

    Article  Google Scholar 

  • Gottlieb C, Plöen L, Kvist U, Strandvik B (1991) The fertility potential of male cystic fibrosis patients. Int J Androl 14: 437–440

    Article  PubMed  CAS  Google Scholar 

  • Gough NM, Gearing DP, Nicola NA, Baker E, Pritchard, Callen DF, Sutherland GR (1990) Localization of the human GM-CSF receptor ene to the X-Y pseudoautosomal region. Nature 345: 734–736

    Article  PubMed  CAS  Google Scholar 

  • Grumbach MM, Conte FA (1991) Disorders of sex differentiation. In: Wilson JD, Foster DW (eds) Williams Textbook of Endocrinology, 8th edn. Saunders, Philadelphia, pp 853–951

    Google Scholar 

  • Handelsman DJ, Conway AJ, Boylan LM, Turtle JR (1984) Young’s syndrome: obstructive azoospermia and chronic sinopulmonary infections. N Engl J Med 310: 3–9

    Article  PubMed  CAS  Google Scholar 

  • Hardelin JP, Levilliers J, del Castillo I et al. (1992) X chromosome-linked Kallmann syndrome: stop mutations validate the candidate gene. Proc Natl Acad Sci USA 89: 8190–8194

    Article  PubMed  CAS  Google Scholar 

  • Henegariu O, Hirschmann P, Kilian K et al. (1994) Rapid screening of the Y chromosome in idiopathic sterile men, diagnostic for deletions in AZF, a genetic Y factor expressed during spermatogenesis. Andrologia 26: 97–106

    Article  PubMed  CAS  Google Scholar 

  • Henke A, Wapenaar M, van Ommen GJ, Maraschio P, Amerino G, Rappold G (1991) Deletions within the pseudoautosomal region help map three new markers and indicate a possible role of this region in linear growth. Am J Hum Genet 49: 811–819

    PubMed  CAS  Google Scholar 

  • Jacobs PA, Strong JA (1959) A case of human intersexuality having a possible XXY sex-determining mechanism. Nature 183: 302–303

    Article  PubMed  CAS  Google Scholar 

  • Jäger RJ, Amvret M, Hall K, Scherer G (1990) A human XY female with a frame shift mutation in the candidate testis-determining gene SRY. Nature 348: 452–453

    Article  PubMed  Google Scholar 

  • Kallmann F, Schoenfeld WA, Barrera SE (1944) The genetic aspects of primary eunuchoidism. Am J Ment Defic 48: 203–236

    Google Scholar 

  • Kaplan E, Shwachman H, Perlmutter AD, Rule A, Khaw KT, Holsclaw DS (1968) Reproductive failure in males with cystic fibrosis. N Engl J Med 279: 65–69

    Article  PubMed  CAS  Google Scholar 

  • Kartagener M, Horlacher A (1936) Situs viscerum inversus and Polyposis nasi in einem Falle familiärer Bronchiektasien. Beitr Klin Tuberk 87: 331–333

    Google Scholar 

  • Kartagener M, Stucki P (1962) Bronchiectasis with situs inversus. Arch Pediatr 79: 193–207

    PubMed  CAS  Google Scholar 

  • Keenan BS, Meyer III WJ, Hadjian AJ, Jones HW, Migeon CJ (1974) Syndrome of androgen insensitivity in man: absence of 5-alpha-dihydrotestosterone binding protein in skin fibroblasts. J Clin Endocrinol Metab 38: 1143–1146

    Article  PubMed  CAS  Google Scholar 

  • Keenan BS, Meyer III WJ, Hadjian AJ, Migeon CJ (1975) Androgen receptor in human skin fibroblasts. Characterization of a specific 17beta-hydroxy-5alpha-androstan-3-one-protein complex in cell sonicates and nuclei. Steroids 25: 535–552

    Article  PubMed  CAS  Google Scholar 

  • Kerem BS, Rommens JM, Buchanan JA et al. (1989) Identification of the cystic fibrosis gene: genetic analysis. Science 245: 1073–1080

    Article  PubMed  CAS  Google Scholar 

  • Kobayashi K, Mizuno K, Hida A et al. (1994) PCR analysis of the Y chromosome long arm in azospermic patients: evidence for a second locus required for spermatogenesis. Hum Mol Genet 3: 1965–1967

    Article  PubMed  CAS  Google Scholar 

  • Koopman P, Münsterberg A, Capel B, Vivian N, Lovell-Badge R (1990) Expression of a candidate sex-determining gene during mouse testis differation. Nature 348: 450–452

    Article  PubMed  CAS  Google Scholar 

  • Koopman P, Gubbay J, Vivian N, Goodfellow P, Lovell-Badge R (1991) Male development of chromosomally female mice transgenic for SRY. Nature 351: 117–121

    Article  PubMed  CAS  Google Scholar 

  • Küpker W, Ludwig M, Hahn K et al. (1996) Prevalence of microdeletions in the azoospermia factor (AZF) region of the Y-chromosome in cases of azoospermia and severe oligoasthenoteratozoospermia. Fertil Steril 66 [Suppl]:S 52

    Google Scholar 

  • Layman LC, Reindollar RH (1994) The genetics of hypogonadism. In: Diamond MP, DeCherney AH, Layman LC (eds) Infertility and reproductive medicine. Clinics of North America, vol 5 No 1. Saunders, Philadelphia, pp 53–68

    Google Scholar 

  • Le Lannou D, Jezequel P, Blayau M et al. (1995) Obstructive azoospermia with agenesis of vas deferens or with bronchiectasia (Young’s syndrome): a genetic approach. Hum Re-prod 10: 338–341

    Google Scholar 

  • Legouis R, Hardelin J, Levilliers J et al. (1991) The candidate gene for the X-linked Kallmann syndrome encodes a protein related to adhesion molecules. Cell 67: 423–435

    Article  PubMed  CAS  Google Scholar 

  • Liu J, Nagy Z, Joris H, Tournaye H, Devroey P, Van Steirteghem AC (1995) Successful fertilization and establishment of pregnancies after intracytoplasmic sperm injection in patients with globozoospermia. Hum Reprod 10: 626–629

    PubMed  CAS  Google Scholar 

  • Lucian JM, Mattei A, Devictor-Vuillet M, Stahl A, Vague J (1970) Study of meiotic chromosomes in a case of Klinefelters’ disease with spermatogenesis an 46,XX-47,XXY karyotype. Ann Genet 13: 249–253

    Google Scholar 

  • Lundin K, Sjögren A, Nilsson L, Hamberger L (1994) Fertilization and pregnancy after in-tracytoplasmic microinjection of acrosomeless spermatozoa. Fertil Steril 62: 1266–1267

    PubMed  CAS  Google Scholar 

  • Ma K, Sharkey A, Kirsch S et al. (1992) Towards the molecular localisation of the AZF locus: mapping of microdeletions in azoospermic men within 14 subintervals of interval 6 of the human Y chromosome. Hum Mol Genet 1: 29–33

    Article  PubMed  CAS  Google Scholar 

  • Mak V, Keith AJ (1996) The genetics of male infertility. J Urol 156: 1245–1257

    Article  PubMed  CAS  Google Scholar 

  • Martini E, Geraedts JPM, Liebaers I, Land JA, Capitanio GL, Ramaekers FCS, Hopman AHN (1996) Constitution of semen samplex from XYY and XXY males as analysed by in-situ hybridisation. Hum Reprod 11: 1638–1643

    Article  PubMed  CAS  Google Scholar 

  • McKusick (1994) Medelian inheritance in man, 11th edn.

    Google Scholar 

  • Meitinger T, Heye B, Petit C (1990) Definitive localization of X-linked Kaltman syndrome (hypogonadotropic hypogonadism and anosmia) to Xp 22.3: close linkage to the hypervariable repeat sequence CRI-S232. Am J Hum Genet 47: 664–669

    PubMed  CAS  Google Scholar 

  • Mercier B, Verlingue C, Lissens Wet al. (1995) Is congenital bilateral absence of the vas deferens a priary form of cystic fibrosis? Analyses of the CFTR gene in 67 patients. Am J Hum Genet 56: 272–277

    PubMed  CAS  Google Scholar 

  • Meschede D, Behre HM, Nieschlag E (1995) Störungen im Bereich der Androgenzielorgane. In: Nieschlag E, Behre HM (Hrsg) Andrologie. Grundlagen und Klinik der reproduktiven Gesundheit des Mannes. Springer, Berlin Heidelberg New York Tokyo, S 219–236

    Google Scholar 

  • Migeon BR, Whitehouse D (1967) Familial occurrence of the somatic phenotype of Turner’s syndrome. Johns Hopkins Med J 120: 78–80

    PubMed  CAS  Google Scholar 

  • Miller C (1993) Sickly channels in mild disease. Nature 362: 106

    Article  PubMed  CAS  Google Scholar 

  • Morris JM (1953) The syndrome of testicular feminization in male pseudohermaphrodites. Am J Obstet Gynecol 65: 1192–1211

    PubMed  CAS  Google Scholar 

  • Nakahori Y, Takenaka O, Nakagone Y (1991) A human X-Y homologous region encodes „amelogenin“. Genomics 9: 264–269

    Article  PubMed  CAS  Google Scholar 

  • Noonan JA (1968) Hypertelorism with Turner phenotype: a new syndrome with associated congenital heart disease. Am J Dis Child 116: 373–380

    PubMed  CAS  Google Scholar 

  • Page DC, Mosher R, Simpson EM et al. (1987) The sex-determining region of the human Y chromosome encodes a finger protein. Cell 51: 1091–1104

    Article  PubMed  CAS  Google Scholar 

  • Page DC, Fisher EMC, McGillivray B, Brown LG (1990) Additional deletion in sex-determining region of human Y chromosome resolves paradox of X,t (Y;22) female. Nature 346: 279–281

    Article  PubMed  CAS  Google Scholar 

  • Palmblad J, Mossberg B, Afzelius BA (1984) Ultrastructural, cellular, and clinical features of the immotile-cilia syndrome. Ann Rev Med 35: 481–492

    Article  PubMed  CAS  Google Scholar 

  • Palmer MS, Sinclair AH, Berta P, Ellis NA, Goodfellow PN, Abbas NE, Fellous M (1989) Genetic evidence that ZFY is not the testis-determining factor. Nature 342: 937–939

    Article  PubMed  CAS  Google Scholar 

  • Patrizio P, Asch R, Handelin B, Silber S (1993a) Aetiology of congenital absence of vas deferens: genetic study of three generations. Hum Reprod 8:215–221

    CAS  Google Scholar 

  • Patrizio P, Ord T, Silber SJ, Asch RH (1993b) Cystic fibrosis mutations impair the fertilization rate of epididymal sperm from men with congenital absence of the vas deferens. Hum Reprod 8: 1259–1263

    CAS  Google Scholar 

  • Paulsen CA, Gordon DL, Carpenter RW (1968) Klinefelter’s syndrome and it’s variants: a hormonal and chromosomal study. Recent Prog Horm Res 24: 321–363

    PubMed  CAS  Google Scholar 

  • Pederson H, Reebe H (1974) Fine structure of round-headed human spermatozoa. J Reprod Fertil 37: 51–54

    Article  Google Scholar 

  • Puschek EE, Behzadian A, McDonough PG (1994) Molecular biology of sexual differentiation. In: Diamond MP, DeCherney AH, Layman LC (eds) Infertility and reproductive medicine. Clinics of North America. Saunders, New York, pp 69–81

    Google Scholar 

  • Quigley CA, de Bettis A, Marschke KB, El-Awady MK, Wilson EM, French FS (1995) Androgen receptor defects: historical, clinical, and moleular perspectives. Endocrine Rev 16: 271–321

    CAS  Google Scholar 

  • Qureshi SJ, Ross AR, Ma K, Cooke H-J, Intyre MAM, Chandley AC, Hargreave TB (1996) Polymerase chain reaction screening for Y chromosome microdeletions: a first step towards the diagnosis of genetically-determined spermatogenic failure in men. Mol Hum Reprod 2: 775–779

    Article  PubMed  CAS  Google Scholar 

  • Reijo R, Lee TL, Salo P et al. (1995) Diverse spermatogenic defects in humans caused by Y chromosome deletions encompassing a novel RNA-binding protein gene. Nature Genet 10: 383–393

    Article  PubMed  CAS  Google Scholar 

  • Reijo R, Alagappan RK, Patrizio P, Page DC (1996a) Severe oligozoospermia resulting from deletions of azoospermia factor gene on Y chromosome. Lancet 347: 1290–1293

    Article  CAS  Google Scholar 

  • Reijo R, Seligman J, Dinulos MB, Jaffe T, Brown LG, Disteche CM, Page DC (1996b) Mouse autosomal homolog of DAZ, a candidate male sterility gene in humans, is expressed in male germ cells before and after puberty. Genomics 35: 346–352

    Article  CAS  Google Scholar 

  • Rott HD (1979) Kartagener’s syndrome and the syndrome of immotile cilia. Hum Genet 46: 249–261

    Article  PubMed  CAS  Google Scholar 

  • Samuel J (1987) Kartagener’s syndrome with normal spermatozoa. JAMA 258: 1329–1330

    Article  PubMed  CAS  Google Scholar 

  • Saxena R, Brown LG, Hawkins T et al. (1996) The DAZ gene cluster on the human Y chromosome arose from an autosomal gene that was transposed repeatedly amplified and pruned. Nat Genet 14: 292–299

    Article  PubMed  CAS  Google Scholar 

  • Schieferstein G, Wolburg H, Adam W (1987) Stiff-tail oder Mittelstücksyndrom. Andrologia 19: 5–8

    Article  PubMed  CAS  Google Scholar 

  • Schirren CG, Holstein AF, Schirren C (1971) Über die Morphogenese rundköpfiger Spermatozoen des Menschen. Andrologia 3: 117–125

    Google Scholar 

  • Schneider-Gädicke A, Beer-Romero P, Brown LG, Mardon G, Luoh S-W, Page DC (1989) Putative transcription activator with alternative isoforms encoded by human ZFX gene. Nature 342: 708–711

    Article  PubMed  Google Scholar 

  • Semenza GL (1994) Transcriptional regulation of gene expression: mechanisms and pathophysiology. Hum Mutat 3: 180–199

    Article  PubMed  CAS  Google Scholar 

  • Siewert AK (1904) Ueber einen Fall von Bronchiectasie bei einem Patienten mit Situs inversus viscerum. Berl Klin Wochr 41: 401–403

    Google Scholar 

  • Silber SJ, Nagy ZP, Liu J, Godoy H, Devroey P, Van Steirteghem AC (1994) Conventional in-vitro fertilization versus intracytoplasmic sperm injection for patients requiring micro-surgical sperm aspiration. Hum Reprod 9: 1705–1709

    PubMed  CAS  Google Scholar 

  • Sinclair AH, Berta P, Palmer MS et al. (1990) A gene from the human sex determining region encodes a protein with homology to a conserved DNA-binding motif. Nature 346: 240–244

    Article  PubMed  CAS  Google Scholar 

  • Skakkebaek NE (1981) Cytogenetics in male hypogonadism. In: Burger H, De Kretser D (eds) The Testis. Raven, New York, pp 401–417

    Google Scholar 

  • Smith KD, Young KE, Talbot CC, Schmeckpeper BJ (1987) Repeated DNA of the human Y chromosome. Development 101 [Suppl]: 77–92

    PubMed  CAS  Google Scholar 

  • Staessen C, Coonen E, Van Assche E et al. (1996) Preimplantation diagnosis for X and Y normality in embryos from three Klinefelter patients. Hum Reprod 11: 1650–1653

    Article  PubMed  CAS  Google Scholar 

  • Taussig LM, Lobeck CC, Di Sant-Agnese PA, Ackerman DR, Kattwinkel J (1972) Fertility in males with cystic fibrosis. N Engl J Med 287: 586–589

    Article  PubMed  CAS  Google Scholar 

  • Tiepolo L, Zuffardi O (1976) Localization of factors controlling spermatogenesis in the non-fluorescent portion of the human Y chromosome long arm. Hum Genet 34: 119–124

    Article  PubMed  CAS  Google Scholar 

  • Tournaye H, Staessen C, Liebaers I, Van Assche E, Devroey P, Bonduelle M, Van Steirteghem A (1996) Testicular sperm recovery in nine 47, XXY Klinefelter patients. Hum Reprod 11: 1644–1649

    Article  PubMed  CAS  Google Scholar 

  • Trokoudes KM, Danos N, Kalogirou L, Vlacou R, Lysiotis T, Geroghiades N, Lerios S, Kyriacou K (1995) Pregnancy with spermatozoa from a globozoospermic man after intracytoplasmic sperm injection treatment. Hum Reprod 10: 880–882

    PubMed  CAS  Google Scholar 

  • Van der Ven K, Messer L, van der Ven H, Jeyendran RS, Ober C (1996) Cystic fibrosis muta-tion screening in healthy men with reduced sperm quality. Hum Reprod 11: 513–517

    Article  PubMed  Google Scholar 

  • Verga V, Erickson RP (1989) An extended longrange restriction map of the human sex-determining region of Yp, including ZFY, finds marked homology on Xp and no detectable Y sequences in XX male. Am J Hum Genet 44: 756–765

    PubMed  CAS  Google Scholar 

  • Vergnaud G, Page DC, Simmler MC et al. (1986) A deletion map of the human Y chromosome based on DNA hybridization. Am J Hum Genet 38: 109–124

    PubMed  CAS  Google Scholar 

  • Vogt P (1992) Y chromosome function in spermatogenesis. In: Nieschlag E, Habenicht OF (eds) Spermatogenesis–Fertilization–Contraception. Molecular, cellular and endocrine events in male reproduction. Springer, Berlin Heidelberg New York Tokyo, pp 225–265

    Google Scholar 

  • Vogt P, Keil R, Köhler MD, Lengauer C, Lewe D, Lewe G (1991) Selection of DNA sequences from interval 6 of the human Y chromosome with homology to a Y chromosomal fertility gene sequence of Drosophila hydei. Hum Genet 86: 341–349

    Article  PubMed  CAS  Google Scholar 

  • Vogt PH, Edelmann A, Kirsch S et al. (1996) Human Y chromosome azoospermia factor (AZF) mapped to different subregions in Yql 1. Hum Mol Genet 5: 933–943

    Article  PubMed  CAS  Google Scholar 

  • Wachtel SS (1983) H-Y antigen and the biology of sex determintion. Grune & Stratton, New York

    Google Scholar 

  • Weissenbach J, Goodfellow PN (1990) Report of the committee on the genetic constitution of the Y-chromosome. Cytogen Cell Genet 55: 314–320

    Article  CAS  Google Scholar 

  • Wilson EM, French FS (1976) Binding properties of androgen receptors: evidence for identical receptors in rat testis, epididymis and prostate. J Biol Chem 251: 5620–5629

    PubMed  CAS  Google Scholar 

  • Wilton LJ, Teichtahl H, Temple-Smith PD, Johnson JL, Southwich GJ, Burger HG, de Kretser DM (1991) Fertil Steril 55: 144–151

    PubMed  CAS  Google Scholar 

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  1. M. Ludwig
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  2. W. Küpker
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  1. Klinik für Frauenheilkunde und Geburtshilfe, Medizinische Universität zu Lübeck, Ratzeburger Allee 160, 23538, Lübeck, Angola

    Klaus Diedrich

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Ludwig, M., Küpker, W. (1998). Genetik in der Andrologie. In: Diedrich, K. (eds) Weibliche Sterilität. Springer, Berlin, Heidelberg. https://doi.org/10.1007/978-3-642-58738-2_22

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